Ecology of large felids and their prey in small reserves of the Yucatán Peninsula of Mexico.

Jaguars and pumas are top-predator species in the Neotropics that are threatened by habitat destruction, illegal poaching of their body parts and their favored prey, and by the human-wildlife conflicts that arise when predators attack livestock. Much of the remaining felid habitat in the Americas is in protected nature reserves that are too small and isolated to support local populations. Surrounding forests therefore play a vital role in felid conservation. Successful long-term conservation of these two felids requires evidence-based knowledge of their biological and ecological requirements. We studied population distributions of jaguars and pumas and their prey in and between two small, private reserves of the Northern Yucatán Peninsula, Mexico, with areas of 25 and 43 km2. During 2 years of camera trapping (2015 and 2016), we detected 21 jaguars, from which we estimated an average space requirement of 28-45 km2/individual. Dietary niche overlap exceeded random expectation. The most frequently occurring prey items in jaguar and puma diets were collared peccary and deer. Jaguar also favored nine-banded armadillos and white-nosed coati, while puma favored canids. Both felids avoided ocellated turkey. Overall, diet of jaguars was less species-rich, but similar in niche breadth, to that of pumas. A fluid use of space by both species, in 2015 tending toward mutual attraction and in 2016 toward partial exclusion of pumas by jaguars, combined with the high dietary overlap, is consistent with a dominance hierarchy facilitating coexistence. Jaguars and pumas favor the same prey as the people in local communities who hunt, which likely will intensify human-wildlife impacts when prey become scarce. We conclude that even small reserves play an important role in increasing the continuity of habitat for prey and large felids, whose generalist habits suppress interspecific competition for increasingly limiting prey that are largely shared between them and humans.

Los jaguares y pumas son las principales especies depredadoras del Neotrópico. Se encuentran amenazados por la destrucción de su hábitat, la caza furtiva de sus partes corporales, así como de sus presas favoritas, y por los impactos entre humanos y vida silvestre que surgen cuando estas especies atacan al ganado. Gran parte del hábitat protegido de los felinos restante en las Américas lo constituyen reservas naturales que son demasiado pequeñas y aisladas para por sí mismas sustentar las poblaciones locales de estas especies. Por lo tanto, los bosques circundantes juegan un papel vital para la conservación de estos felinos. La conservación exitosa a largo plazo de estas dos especies de felinos necesita conocimiento basado en evidencia de sus requerimientos biológicos y ecológicos. Estudiamos la distribución de poblaciones de jaguares y pumas, y sus presas, en dos pequeñas áreas protegidas privadas del norte de la península de Yucatán, México, con áreas de 25 y 43 km2, y en el área no protegida de 250 km2 que se encuentra entre ellas. Durante un estudio de foto-trampeo de dos años (2015 y 2016), detectamos 21 jaguares, a partir de los cuales estimamos requerimientos espaciales de 28­45 km2/individuo en promedio. La superposición entre nichos alimentarios superó las expectativas aleatorias. Las presas más frecuentes en las dietas del jaguar y el puma fueron el pecarí de collar y los venados. El jaguar también favoreció al armadillo de nueve bandas y coatí de nariz blanca, mientras que el puma favoreció a los cánidos. Ambos felinos evitaron al pavo ocelado. En general, la dieta de los jaguares presentó menor riqueza específica, pero similar amplitud de nicho a la de los pumas. Un uso fluido del espacio por parte de ambas especies hizo que en un año tendieran a tener atracción mutua y en otro a una exclusión parcial por parte de los jaguares a los pumas, lo cual, en combinación con la alta superposición alimentaria, es consistente con una jerarquía de dominancia que facilita la convivencia. Los jaguares y los pumas favorecieron las mismas presas que la gente que caza en las comunidades locales, lo que probablemente intensificará los impactos entre humanos y vida silvestre cuando las presas escaseen. Concluimos que incluso las reservas pequeñas desempeñan un papel importante en el aumento de la continuidad del hábitat para presas y grandes felinos, cuyos hábitos generalistas suprimen la competencia inter-específica por presas cada vez más limitadas que en gran parte comparten con los humanos.

Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi survey.

Management of Gaucher disease (GD) is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment. Sixteen face-to-face meetings with experts were held in order to discuss daily clinical practice and identify controversies regarding the management of GD. With this information, a questionnaire with 93 recommendations for different clinical scenarios was designed, and a Delphi survey among 86 physicians with experience in GD was conducted. Consensus was reached on 73 out of the 93 items. Recommendations on follow-up of adult and pediatric patients were in line with current guidelines, and underscored the importance of a patient-tailored approach. For the follow-up of stable patients receiving long-term treatment, consensus was reached on the importance of multidisciplinary care that involves pediatricians, internal medicine, and primary care, specialized radiologists, orthopedic surgeons, and hematologists when required. Degree of pain, use of painkillers and antidepressants, and quality of life should be evaluated at every follow-up visit or at least once per year. In general, a closer follow-up was recommended for untreated patients or patients who underwent a treatment change (every 3 months during the first year) and during pregnancy. For pregnant patients, hemostasis and risk of hemorrhage should be assessed, but no consensus was reached for initiation of treatment in asymptomatic pregnant patients. Lastly, recommendations on how to adapt GD management during a COVID-19 pandemic were collected. This expert consensus may help decision-making during the management of GD in specific clinical scenarios.

Vitamin C and folate status in hereditary fructose intolerance.

BACKGROUND: Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common. Therefore, the aim of this study was to assess vitamin C and folate status and supplementation practices in a nationwide cohort of HFI patients. METHODS: Vitamin C and folic acid dietary intake, supplementation and circulating levels were assessed in 32 HFI patients and 32 age- and sex-matched healthy controls. RESULTS: Most of the HFI participants presented vitamin C (96.7%) and folate (90%) dietary intake below the recommended population reference intake. Up to 69% received vitamin C and 50% folic acid supplementation. Among HFI patients, 15.6% presented vitamin C and 3.1% folate deficiency. The amount of vitamin C supplementation and plasma levels correlated positively (R = 0.443; p = 0.011). Interestingly, a higher percentage of non-supplemented HFI patients were vitamin C deficient when compared to supplemented HFI patients (30% vs. 9.1%; p = 0.01) and to healthy controls (30% vs. 3.1%; p < 0.001). CONCLUSIONS: Our results provide evidence for the first time supporting vitamin C supplementation in HFI. There is great heterogeneity in vitamin supplementation practices and, despite follow-up at specialised centres, vitamin C deficiency is common. Further research is warranted to establish optimal doses of vitamin C and the need for folic acid supplementation in HFI.

Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation.

Alkaptonuria is a rare autosomal recessive metabolic disorder with wide systemic involvement including pigment deposition. We present an unusual case diagnosed by an image obtained via telemedicine showing pigment deposition in the earlobe. We highlight how this clue may allow prompt diagnosis of alkaptonuria and prevent disease progression. Click https://www.wileyhealthlearning.com/#/online-courses/5da3bb51-40d1-4d42-9c4b-610d68106e25 for the corresponding questions to this CME article.

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.

Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = -0.386, p = 0.024) and FSS (R = -0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.

Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage and its extracellular matrix, leading to a growth imbalance. Enzyme replacement therapy (ERT) with recombinant human GALNS has yielded positive results in activity of daily living and endurance tests. However, no data have demonstrated improvements in bone lesions and bone grow thin MPS IVA after ERT, and there is no correlation between therapeutic efficacy and urine levels of keratan sulfate, which accumulates in MPS IVA patients. Using qualitative and quantitative proteomics approaches, we analyzed leukocyte samples from healthy controls (n = 6) and from untreated (n = 5) and ERT-treated (n = 8, sampled before and after treatment) MPS IVA patients to identify potential biomarkers of disease. Out of 690 proteins identified in leukocytes, we selected a group of proteins that were dysregulated in MPS IVA patients with ERT. From these, we identified four potential protein biomarkers, all of which may influence bone and cartilage metabolism: lactotransferrin, coronin 1A, neutral alpha-glucosidase AB, and vitronectin. Further studies of cartilage and bone alterations in MPS IVA will be required to verify the validity of these proteins as potential biomarkers of MPS IVA.

Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa / Recommendations for the management of renal involvement in the tuberous sclerosis complex

El complejo esclerosis tuberosa (CET) es una enfermedad rara, hereditaria, multisistémica y con un amplio espectro fenotípico. Su manejo requiere de la colaboración de múltiples especialistas. Así como en la edad pediátrica cobra un especial relieve el neurólogo pediatra, en la edad adulta la afectación renal es la causante de la mayor morbimortalidad. Existen diversas recomendaciones sobre el manejo general del paciente con CET, pero ninguna que se centre en la afectación renal. Las presentes recomendaciones responden a la necesidad de proporcionar pautas para facilitar un mejor conocimiento y manejo diagnóstico-terapéutico de la afectación renal del CET mediante un uso racional de las pruebas complementarias y el empleo correcto de los tratamientos disponibles. Su elaboración se ha basado en el consenso dentro del grupo de trabajo de enfermedades renales hereditarias de la SEN/REDINREN. Ha contado con la participación de especialistas en CET no nefrólogos también con el fin de ampliar la visión de la enfermedad

Tuberous sclerosis complex (TSC) is a rare, hereditary, multisystemic disease with a broad phenotypic spectrum. Its management requires the collaboration of multiple specialists. Just as in the paediatric age, the paediatric neurologist takes on special importance; in adulthood, renal involvement is the cause of the greatest morbidity and mortality. There are several recommendations on the general management of patients with TSC but none that focuses on renal involvement. These recommendations respond to the need to provide guidelines to facilitate a better knowledge and diagnostic-therapeutic management of the renal involvement of TSC through a rational use of complementary tests and the correct use of available treatments. Their elaboration has been based on consensus within the hereditary renal diseases working group of the SEN/REDINREN (Spanish Society of Nephrology/Kidney Research Network). It has also counted on the participation of non-nephrologist specialists in TSC in order to expand the vision of the disease

Recommendations for the management of renal involvement in the tuberous sclerosis complex. / Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa.

Tuberous sclerosis complex (TSC) is a rare, hereditary, multisystemic disease with a broad phenotypic spectrum. Its management requires the collaboration of multiple specialists. Just as in the paediatric age, the paediatric neurologist takes on special importance; in adulthood, renal involvement is the cause of the greatest morbidity and mortality. There are several recommendations on the general management of patients with TSC but none that focuses on renal involvement. These recommendations respond to the need to provide guidelines to facilitate a better knowledge and diagnostic-therapeutic management of the renal involvement of TSC through a rational use of complementary tests and the correct use of available treatments. Their elaboration has been based on consensus within the hereditary renal diseases working group of the SEN/REDINREN (Spanish Society of Nephrology/Kidney Research Network). It has also counted on the participation of non-nephrologist specialists in TSC in order to expand the vision of the disease.